No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Ann Neurol. 2002 Aug;52(2):224-7. doi: 10.1002/ana.10245.

Abstract

Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Female
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Hereditary Sensory and Autonomic Neuropathies / pathology
  • Heterozygote
  • Humans
  • Mutation*
  • Nerve Fibers, Myelinated / pathology
  • Polymorphism, Genetic
  • Receptor, trkA / genetics*
  • Sural Nerve / pathology

Substances

  • Receptor, trkA